Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23222622G>T , CM000670.2:g.23222622G>T | GRCh38 |
| NC_000008.10:g.23080135G>T , CM000670.1:g.23080135G>T | GRCh37 |
| NC_000008.9:g.23136080G>T | NCBI36 |
| NG_032107.1:g.7546C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003844.4:c.306+2134C>A MANE Select | NP_003835.3:n.306+2134C>A |
| ENST00000221132.8:c.306+2134C>A MANE Select | ENSP00000221132.3:n.306+2134C>A |
| NM_003844.3:c.306+2134C>A | NP_003835.3:n.306+2134C>A |
| ENST00000221132.7:c.306+2134C>A | ENSP00000221132.3:n.306+2134C>A |
| ENST00000524158.5:c.-301+1811C>A | ENSP00000428884.1:n.-301+1811C>A |
| ENST00000613472.1:c.31+2409C>A | ENSP00000480778.1:n.31+2409C>A |